LOCUS       NM_017802               3412 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens dynein axonemal assembly factor 5 (DNAAF5), transcript
            variant 1, mRNA.
ACCESSION   NM_017802 XM_935536 XM_935818 XM_935819 XM_935821 XM_935823
            XM_935824 XM_935825
VERSION     NM_017802.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3412)
  AUTHORS   Diggle,C.P., Moore,D.J., Mali,G., zur Lage,P., Ait-Lounis,A.,
            Schmidts,M., Shoemark,A., Garcia Munoz,A., Halachev,M.R.,
            Gautier,P., Yeyati,P.L., Bonthron,D.T., Carr,I.M., Hayward,B.,
            Markham,A.F., Hope,J.E., von Kriegsheim,A., Mitchison,H.M.,
            Jackson,I.J., Durand,B., Reith,W., Sheridan,E., Jarman,A.P. and
            Mill,P.
  TITLE     HEATR2 plays a conserved role in assembly of the ciliary motile
            apparatus
  JOURNAL   PLoS Genet 10 (9), e1004577 (2014)
   PUBMED   25232951
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3412)
  AUTHORS   Horani,A., Druley,T.E., Zariwala,M.A., Patel,A.C., Levinson,B.T.,
            Van Arendonk,L.G., Thornton,K.C., Giacalone,J.C., Albee,A.J.,
            Wilson,K.S., Turner,E.H., Nickerson,D.A., Shendure,J., Bayly,P.V.,
            Leigh,M.W., Knowles,M.R., Brody,S.L., Dutcher,S.K. and Ferkol,T.W.
  TITLE     Whole-exome capture and sequencing identifies HEATR2 mutation as a
            cause of primary ciliary dyskinesia
  JOURNAL   Am J Hum Genet 91 (4), 685-693 (2012)
   PUBMED   23040496
  REMARK    GeneRIF: Identification of HEATR2 contributes to the growing number
            of genes associated with PCD identified in both individuals and
            model organisms and shows that exome sequencing in family studies
            facilitates the discovery of novel disease-causing gene mutations.
REFERENCE   3  (bases 1 to 3412)
  AUTHORS   Zhao,D., Peng,D., Li,L., Zhang,Q. and Zhang,C.
  TITLE     Inhibition of G1P3 expression found in the differential display
            study on respiratory syncytial virus infection
  JOURNAL   Virol J 5, 114 (2008)
   PUBMED   18838000
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3412)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   5  (bases 1 to 3412)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC144411.2, BC047240.1,
            BM743055.1, AK056233.1, AK098430.1 and CB238804.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_017802.3.
            
            Summary: The protein encoded by this gene is essential for the
            preassembly or stability of axonemal dynein arms, and is found only
            in organisms with motile cilia and flagella. Mutations in this gene
            are associated with primary ciliary dyskinesia-18, a disorder
            characterized by abnormalities of motile cilia. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Feb 2013].
            
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC047240.1, SRR7346977.1220425.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297440.11/ ENSP00000297440.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC144411.2         116987-116988
            3-5                 AC144411.2         116989-116991
            6-351               BC047240.1         4-349
            352-767             BM743055.1         152-567
            768-1634            AK056233.1         151-1017
            1635-2647           BC047240.1         1633-2645
            2648-3410           AK098430.1         1166-1928
            3411-3412           CB238804.1         19-20               c
FEATURES             Location/Qualifiers
     source          1..3412
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..3412
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /note="dynein axonemal assembly factor 5"
                     /db_xref="GeneID:54919"
                     /db_xref="HGNC:HGNC:26013"
                     /db_xref="MIM:614864"
     exon            1..617
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..2590
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /note="HEAT repeat-containing protein 2; HEAT repeat
                     containing 2; dynein assembly factor 5, axonemal"
                     /codon_start=1
                     /product="dynein axonemal assembly factor 5"
                     /protein_id="NP_060272.3"
                     /db_xref="CCDS:CCDS34580.1"
                     /db_xref="GeneID:54919"
                     /db_xref="HGNC:HGNC:26013"
                     /db_xref="MIM:614864"
                     /translation="MAALGVAEAVAAPHPAEGAETAEAVELSRALSRLLPGLEADSKP
                     GRRRALEALRRALEEPGPAADPTAFQGPWARLLLPRLLRCLSDPAEGCRALAVHLLDL
                     GLRRAARPRDALPRLLPALAARLAGPVPARRPPEACEELRLALVQLLGLAVDLCGAAL
                     APHLDDALRALRCSLLDPFAAVRRESCSCAAALAQATPDHFHMQSESLIGPLMQTISH
                     QHWKVRVAAIEATGAVIHFGNGKSVDDVLSHFAQRLFDDVPQVRRAVASVVGGWLLCL
                     RDRYSFFHKLIPLLLSSLNDEVPEVRQLAASLWEDVGLQWQKENEEDLKDKLDFAPPT
                     PPHYPPHERRPVLGCRELVFRNLSKILPALCHDITDWVVGTRVKSAQLLPVLLLHAED
                     HATQHLEVVLRTLFQACTDEEAAVVQSCTRSAELVGTFVSPEVFLKLILSTLKKTPSA
                     SGLLVLASAMRGCPREALQPHLAAIATELAQAHICQASENDLYLERLLLCVQALVSVC
                     HEDCGVASLQLLDVLLTIVALAGATGLRDKAQETMDSLAMVEGVSSCQDLYRKHIGPL
                     LERVTASHLDWTAHSPELLQFSVIVAQSGPALGEALPHVVPTLRACLQPSQDPQMRLK
                     LFSILSTVLLRATDTINSQGQFPSYLETVTKDILAPNLQWHAGRTAAAIRTAAVSCLW
                     ALTSSEVLSAEQIRDVQETLMPQVLTTLEEDSKMTRLISCRIINTFLKTSGGMTDPEK
                     LIRIYPELLKRLDDVSNDVRMAAASTLVTWLQCVKGANAKSYYQSSVQYLYRELLVHL
                     DDPERAIQDAILEVLKEGSGLFPDLLVRETEAVIHKHRSATYCEQLLQHVQAVPATQ"
     exon            618..802
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     exon            803..927
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     exon            928..1046
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1279
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1492
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1636
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1637..1805
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1806..1953
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1954..2104
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     exon            2105..2261
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     exon            2262..2453
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     exon            2454..3412
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3393..3398
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /note="hexamer: ATTAAA"
     polyA_site      3412
                     /gene="DNAAF5"
                     /gene_synonym="CILD18; HEATR2"
                     /note="major polyA site"
ORIGIN      
        1 agtgaccggc gacgcgggca agatggcggc gctgggggtg gcggaggccg tggcggcccc
       61 acacccggct gagggggccg agacggctga ggcggtggag ctgagccgcg ccctgagccg
      121 cctgctgccg gggctggagg ccgacagcaa gccgggccgg cggcgcgcct tggaggccct
      181 gcggcgcgcg ctggaggagc caggccctgc cgccgacccc accgctttcc agggcccctg
      241 ggcgcgccta ctgctgccgc gcttgctgcg ctgcctgagc gaccccgccg agggctgccg
      301 cgcgctggca gtgcacctgc tggatctggg cctgcgccgc gccgcgcggc cccgcgatgc
      361 cctgccgcgc ctgctgcccg cgctcgccgc gcgcttggcc ggccccgtgc ccgcgcgccg
      421 cccgcccgag gcctgtgagg agctgcgcct ggcgcttgtg cagctgctgg gcctggccgt
      481 ggacctgtgc ggcgccgcgc tcgcgcccca cctggacgac gctctgcgcg cgctgcgctg
      541 ctccctgctc gaccccttcg ccgccgtgcg ccgcgagagc tgcagctgcg ccgccgccct
      601 ggcgcaggcc acgcccgacc acttccacat gcagtcggag tctctgatcg ggcccctgat
      661 gcagaccatc tcccaccagc actggaaggt ccgtgtggcc gccattgaag ccacaggcgc
      721 agtgatccat tttggcaacg ggaagtccgt ggacgacgtg ctttcccatt ttgctcagcg
      781 actgtttgat gacgtcccgc aggtccggcg ggcggtggcc tccgtggtgg gcggctggct
      841 gctgtgtctg cgtgaccgtt actccttctt ccacaagctc atccctctgc tgctcagtag
      901 cctcaacgac gaggtgcctg aggtcaggca gctggctgcc agcctctggg aggacgttgg
      961 cctgcagtgg cagaaggaga atgaggagga cctgaaggac aagctggact ttgcccctcc
     1021 caccccaccc cattaccctc cacatgagcg ccgccctgtg ctgggctgcc gggagctcgt
     1081 cttcaggaac ctctccaaga tcctccctgc cctgtgccac gacatcaccg actgggtggt
     1141 ggggacccga gtgaagtcgg cacagctgct cccagtgctg ctgctgcatg ccgaggacca
     1201 cgccacgcag cacctggagg tcgtcctccg gaccctgttc caggcctgca ccgacgagga
     1261 ggcagccgtg gtccaaagtt gtaccagatc cgcagagctc gtcgggacgt ttgtcagccc
     1321 tgaggtgttt ctgaagctga tcttatcgac gctgaagaag acgccctctg cctccggcct
     1381 cctggtgctg gcctccgcca tgcggggttg cccccgagaa gccctccagc cgcacctggc
     1441 agccatcgcc acagagctgg cacaggccca catctgccag gcatctgaaa acgacctcta
     1501 cctggagcgc ctgctgctgt gtgtgcaggc tctggtgtct gtgtgtcatg aggactgtgg
     1561 cgtggccagc ctgcagctct tggacgtgct gctgacaata gtggccctcg caggtgctac
     1621 cggcctgagg gacaaggcac aggagacgat ggactcactg gccatggtgg agggtgtcag
     1681 cagctgccag gacctctacc gcaagcacat tggtcccctc ctggagcggg tgaccgcgtc
     1741 gcaccttgac tggaccgcac actcgccgga gctcctgcag ttcagtgtca tcgtcgcaca
     1801 gtcaggccct gccctgggag aagccctgcc acacgtcgtg cccacgctga gggcctgtct
     1861 gcagccctcc caagacccgc agatgcgcct gaagctgttc tccatcctgt ccaccgtgct
     1921 gctcagagcc acggacacca tcaactccca ggggcagttt cccagctacc tcgagacggt
     1981 gacaaaggac atcctggccc ccaatctgca gtggcatgcg gggaggacag ccgcggccat
     2041 ccgcacggct gccgtgtcct gcctctgggc gctcaccagc agcgaggtcc tgtcggcaga
     2101 gcagatacgg gacgtgcagg aaacactgat gccccaggtc ctgaccaccc tggaggagga
     2161 ttcgaagatg acgcgactga tctcatgccg tattatcaac acgttcttaa aaacctcggg
     2221 cggcatgacg gatccagaga aactcatcag gatttatcct gaactcttaa aacgcctaga
     2281 tgacgtgtcc aacgatgtga ggatggcagc cgcctccacc ttggtcacct ggctgcagtg
     2341 tgtcaagggt gccaacgcaa aatcctacta tcagagcagt gtccagtacc tgtaccgaga
     2401 gttgctggtt caccttgacg atccagagag ggccatccag gatgcaattt tagaggtcct
     2461 caaagagggc agcgggctgt tcccagatct cctggtgagg gagacggagg ccgtcatcca
     2521 caagcaccgc tcggccacct actgcgagca gctcctgcag catgtgcagg ccgtgccagc
     2581 cacacagtga ccacgctggt ttcagccacg gcacaccctt gtccccacct gagccagagt
     2641 ttgtggcctt taaatctcat aaacaaggca cctctgtgcc agcagtgaga ctgtgacagc
     2701 aagaatgtac tcctcaggac acctgcccac tctttccctg gaataacagc ctctgagtgg
     2761 attctgcatg ttatgtgatt tgttctgttc atcgagaggg ctcccaaaca tctgcagctg
     2821 atttgaaatt aaaagtaagt cgcagccgct cctcccgcag ccacttcagc agcatcttag
     2881 attttaagcc tcacgtgcgc agctggttca tgaactattg gctgcatcct gcttaggtgc
     2941 ccaccaagaa ggtttttacc tacttaacaa aaaagaaaga agccaaagtg attagaaaga
     3001 aatgaaatct ctttttgggt tctgtctact gaaatttaat atctcagtga acagactaaa
     3061 aggaatttag aatcctaaca acttatcaga tttctcctgt tttaaatata ctgggacttt
     3121 aaaggttata tgtccggtca ccgtatgttt taagtcggtg ttaatgctaa cagtgttgaa
     3181 aacaatattt catgagatct aattgtggtt gcccctatag gtagcaggaa agtaaagttg
     3241 catttccctc tcgcacattc tacacccaag tgcctaaaag atctcattgt aagtgggtag
     3301 tgttaccgga agccattgtg ttcacacggg ggaaatgccg tatatatttt tcaacaaata
     3361 ttaacgttta tactttcatg tttgaaaatt taattaaaaa tgtttgtttt aa
//
